Health Library

Medical History and Genetic Testing

To evaluate a child for birth defects, health care providers not only look at a child's newborn screening test results, but also look at the prenatal history of the mother during the pregnancy with the child, the child's neonatal and pediatric history, and the results of any genetic testing the child has had.

Prenatal history. Certain factors during pregnancy can affect the development of the baby. To assess these, various information is looked at, including the following:

Family medical history

Results of any prenatal testing

Personal medical history of the mother (her general health and any health condition she may have)

Any medications used during the pregnancy

Histories of past pregnancies

Vaccination status

Infection screening

Diet

Vitamin use

Smoking or other recreational drug use

Exposure to other harmful substances

Neonatal history: Assessments for newborn babies. Each newborn baby is carefully checked at birth for signs of problems or complications. A complete physical assessment will be performed that includes every body system. Throughout the hospital stay, doctors, nurses, and other health care providers continually assess a baby for changes in health and for signs of problems or illness. These include the following:

Measurements, such as head circumference, abdominal circumference and length

Full physical examination

Hearing screening

State newborn screening

Gestational assessment (determining whether a baby was born premature by looking at both physical maturity, neuromuscular maturity)

Pediatric history. Children are evaluated for their "development milestones" to determine whether their development up to the current point in time has been normal. There are certain abilities and behaviors that are present at certain ages in human development. To evaluate these milestones, there are a number of factors that are examined, including the following:

Rate of growth

Which various activities the child could do at 6 months versus 12 months, etc.

The reflexes a child has and when he or she developed them

The behaviors a child has and when he or she developed them

Development of the baby's speech (how many words at what ages)

The child's level of understanding and how he or she reacts to various environmental stimuli, such as responding to a soothing voice versus a loud noise

Parents may also note that the child being evaluated for a birth defect may seem different than other children in the family (i.e. one child walked and talked later than the other).

Genetic testing. Genetic testing is available to test for a number of different types of chromosome abnormalities and single gene defects. Results of these studies are important for the evaluation of a child for birth defects and their causes.